Mitochondrial Diseases - Nuclear Genes Only: Deletion/Duplication Panel

Condition Description

Mitochondrial diseases are a group of disorders caused by mutations in either mitochondrial DNA (mtDNA) or nuclear genes (nDNA). Production of energy in mitochondria, by means of oxidative phosphorylation, strictly depends upon factors which are encoded both by the mtDNA and the nDNA. Respiratory chain complexes are formed, for the most part by subunits of nuclear origin, as are several indispensable complex-assembling proteins. Accurate replication and efficient maintenance of mtDNA are also essential for the respiratory chain to function properly.

Many metabolic processes, distinct from ATP production, are fulfilled in mitochondria: for instance, important steps of metal cation metabolism take place in the mitochondrial matrix. Furthermore, mitochondria actively fuse and divide, and move interacting with the cytoskeleton. All these functions require the expression of nDNA. Mitochondrial disorders caused by nDNA defects have been the object of increasing attention in the past few years, establishing themselves as an important and relatively prevalent group of pathologies, and challenging the relevance of disease caused by inherited mutations of mtDNA itself.
  • OMIM.
  • GeneReviews.
  • Sosa MX et al, (2012), PLoS Comput Biol 8(10):e1002737.
  • Angelini C et al, (2009), Acta Myol  Jul 2009; 28(1): 16–23.
  • Wang J et al, (2012), Genet Med 14:620–606.

Genes (44)

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This test is indicated for:
  • Confirmation of a clinical diagnosis of mitochondrial diseases.


Deletion/Duplication Analysis: DNA isolated from peripheral blood is hybridized to a gene-targeted CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes that cover the entire genomic region.


Deletion/Duplication Analysis: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic mutations. Results of molecular analysis must be interpreted in the context of the patient\'s clinical and/or biochemical phenotype.

Specimen Requirements

Listed below are EGL's preferred sample criteria. For any questions, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (
Submit only 1 of the following specimen types
DNA, Isolated

Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Collection and Shipping
Refrigerate until time of shipment in 100 ng/µL in TE buffer. Ship sample at room temperature with overnight delivery.
Whole Blood (EDTA)

EDTA (Purple Top)
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Collection and Shipping
Ship sample at room temperature for receipt at EGL within 72 hours of collection. Do not freeze.
  • Mitochondrial Diseases - Nuclear Genes Only: Sequencing Panel
  • Mitochondrial Genome: Sequencing

How to Order

Requisition Forms